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Attempted Prevention of Abnormal External Genital Masculinization in Suspected Congenital Adrenal Hyperplasia

Mark I. Evans, MD; George P. Chrousos, MD; Dean W. Mann, MD; John W. Larsen, Jr, MD; Ira Green, MD; James McCluskey, MB, BS; D. Lynn Loriaux, MD, PhD; John C. Fletcher, PhD; Gregory Koons, MD; James Overpeck, PhD; Joseph D. Schulman, MD

JAMA. 1985;253(7):1015-1020.

Abstract
21-Hydroxylase deficiency results in congenital adrenal hyperplasia and leads to masculinization of the external genitalia of affected females. This complication could be avoided if fetal adrenal gland function were suppressed. A woman with mild 21-hydroxylase deficiency whose previous female child had classic congenital adrenal hyperplasia with masculinization was given dexamethasone beginning at the tenth week of gestation. Maternal estriol and cortisol values indicated rapid and sustained fetal and maternal adrenal gland suppression. At 39 weeks' gestation, the patient was spontaneously delivered of a female neonate with normal external genitalia. Postnatal tests indicated the infant was a single heterozygote for 21-hydroxylase deficiency. This study demonstrates prolonged suppression of the fetal adrenal gland with dexamethasone and suggests it might prevent abnormal masculinization in fetuses with severe congenital adrenal hyperplasia.

(JAMA 1985;253:1015-1020)

Author Affiliations
From the Medical Genetics Program (Dr Evans) and the Bioethics Program (Dr Fletcher), Warren G. Magnuson Clinical Center, the Developmental Endocrinology Branch, National Institute of Child Health and Human Development (Drs Chrousos and Loriaux), the Laboratory of Human Carcinogenesis, National Cancer Institute (Dr Mann), and the Laboratory of Immunology, National Institute of Allergy and Infectious Diseases (Drs Green and McCluskey), the National Institutes of Health, Bethesda, Md; the Department of Obstetrics and Gynecology, the George Washington University School of Medicine; and Health Care Sciences (Dr Larsen), and the Division of Drug Biology, National Center for Drugs and Biologics (Dr Overpeck), Washington, DC; and the Fairfax Hospital (Drs Koons and Schulman) and the Genetics and IVF Institute (Dr Schulman), Fairfax, Va. Dr Evans is currently with the Division of Reproductive Genetics, Department of Obstetrics and Gynecology, Wayne State University, Hutzel Hospital, Detroit.

Footnotes
Reprint requests to the Genetics and IVF Institute, 3020 Javier Rd, Fairfax, VA 22031 (Dr Schulman).

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